C0079683[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207193	NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)	SLC2A1 (R223W)	Single nucleotide variant (missense variant)	Hypophosphatasia +8 more	GPathogenic
Select item 1067977	NM_005562.3(LAMC2):c.640+1G>A	LAMC2	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 874261	NM_005562.3(LAMC2):c.2777G>A (p.Arg926His)	LAMC2 (R926H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 839926	NM_000228.3(LAMB3):c.3228+1G>A	LAMB3	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1A +4 more	GPathogenic
Select item 1034117	NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln)	LAMB3 (R988Q)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1A +3 more	GUncertain significance
Select item 550265	NM_000228.3(LAMB3):c.2962C>T (p.Arg988Trp)	LAMB3 (R988W)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +4 more	GUncertain significance
Select item 449050	NM_000228.3(LAMB3):c.2914C>T (p.Arg972Ter)	LAMB3 (R972*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic
Select item 372403	NM_000228.3(LAMB3):c.2842del (p.Val948fs)	LAMB3 (V948fs)	Deletion (frameshift variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic
Select item 1050101	NM_000228.3(LAMB3):c.2632C>T (p.Arg878Cys)	LAMB3 (R878C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa gravis of Herlitz +2 more	GUncertain significance
Select item 295092	NM_000228.3(LAMB3):c.2397A>G (p.Ile799Met)	LAMB3 (I799M)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +3 more	GUncertain significance
Select item 14539	NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)	LAMB3 (R635*)	Single nucleotide variant (nonsense)	LAMB3-related disorder +5 more	GPathogenic
Select item 551396	NM_000228.3(LAMB3):c.1288+1G>T	LAMB3	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic/Likely pathogenic
Select item 265229	NM_000228.3(LAMB3):c.1132+5G>A	LAMB3	Single nucleotide variant (intron variant)	Amelogenesis imperfecta type 1A +4 more	GPathogenic/Likely pathogenic
Select item 372402	NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter)	LAMB3 (Y339*)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +3 more	GPathogenic
Select item 188937	NM_000228.3(LAMB3):c.463dup (p.Ser155fs)	LAMB3 (S155fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1A +3 more	GPathogenic/Likely pathogenic
Select item 14541	NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)	LAMB3 (R42*)	Single nucleotide variant (nonsense)	LAMB3-related disorder +4 more	GPathogenic
Select item 633285	NM_000228.3(LAMB3):c.31dup (p.Leu11fs)	LAMB3 (L11fs)	Duplication (frameshift variant)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic
Select item 876214	NM_000228.3(LAMB3):c.-72C>A	LOC126805999, LAMB3	Single nucleotide variant (5 prime UTR variant)	Amelogenesis imperfecta type 1A +3 more	GUncertain significance
Select item 553414	NM_198129.4(LAMA3):c.734del (p.Phe245fs)	LAMA3 (F245fs)	Deletion (genic upstream transcript variant +2 more)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 553175	NM_198129.4(LAMA3):c.856-2A>G	LAMA3	Single nucleotide variant (splice acceptor variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 1050319	NM_198129.4(LAMA3):c.2332G>A (p.Gly778Arg)	LAMA3 (G778R)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 1049399	NM_198129.4(LAMA3):c.4297A>G (p.Thr1433Ala)	LAMA3 (T1433A)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 551372	NM_198129.4(LAMA3):c.4750C>T (p.Arg1584Ter)	LAMA3 (R1584*)	Single nucleotide variant (nonsense)	Laryngo-onycho-cutaneous syndrome +4 more	GConflicting classifications of pathogenicity
Select item 890859	NM_198129.4(LAMA3):c.5942G>A (p.Arg1981Gln)	LAMA3 (R372Q +1 more)	Single nucleotide variant (intron variant +1 more)	Laryngo-onycho-cutaneous syndrome +4 more	GConflicting classifications of pathogenicity
Select item 892095	NM_198129.4(LAMA3):c.6286A>G (p.Ile2096Val)	LAMA3 (I2040V +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 8792	NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)	LAMA3 (R2214* +3 more)	Single nucleotide variant (nonsense)	Junctional epidermolysis bullosa gravis of Herlitz +4 more	GPathogenic
Select item 370161	NM_198129.4(LAMA3):c.7158+1G>A	LAMA3	Single nucleotide variant (splice donor variant)	Laryngo-onycho-cutaneous syndrome +4 more	GLikely pathogenic
Select item 890474	NM_198129.4(LAMA3):c.8075G>A (p.Arg2692His)	LAMA3 (R2692H +3 more)	Single nucleotide variant (missense variant)	Laryngo-onycho-cutaneous syndrome +3 more	GUncertain significance
Select item 449049	NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)	LAMA3 (Q1372* +3 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 326342	NM_198129.4(LAMA3):c.9027-14G>A	LAMA3	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 2A, intermediate +4 more	GConflicting classifications of pathogenicity

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Items: 30